José Lopes, PhD, managing science editor —

Normalizing the cardiac levels of frataxin via gene therapy or an alternative strategy could be an effective treatment for cardiac symptoms in patients with Friedreich’s ataxia (FA), as suggested by three-dimensional (3D) heart tissues made in the lab, a study suggests. The study, “Correlation between frataxin…

Biomarkers for Friedreich’s ataxia (FA) may come from measurements of frataxin (FXN) levels in red blood cells and energy production in calf cells, imaging approaches in the nervous system and the heart, as well as markers of nerve cell damage, according to a review of ongoing work. The research,…

Despite some benefits seen in clinical measures like cardiac health and reports by Friedreich’s ataxia (FA) patients of lesser fatigue and better function upon treatment with idebenone in clinical trials, a new two-month study found little difference between those given the therapy and those on placebo. The study, “…

Adding a molecule that specifically binds iron in mitochondria to sun creams could help protect the skin cells of Friedreich’s ataxia (FA) patients from their increased sensitivity to damage caused by ultraviolet A (UVA) radiation. Besides FA patients, this discovery might benefit people living with other disorders also characterized…

A 12-week treatment with the investigational therapy omaveloxolone improved neurological function, and was safe and well-tolerated by Friedreich’s ataxia (FA) patients in a Phase 2 clinical trial. The study, “Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia,” was published in the journal…

Increasing the amount of a protein called GRP75 repairs the characteristic Friedreich’s ataxia (FA) frataxin deficiency and mitochondrial alterations, according to a study in patient-derived and mouse cells. The study, “GRP75 overexpression rescues frataxin deficiency and mitochondrial phenotypes in Friedreich Ataxia cellular models,” was published in the…

A gene therapy approach to increase the amount of the critical frataxin protein shows that correcting only half of the heart muscle cells, or cardiomyocytes, is enough to fully restore the cardiac function in a mouse model of Friedreich’s Ataxia (FA) The study, “Correction of half…

Central nervous system (CNS) damage in Friedreich’s ataxia (FA) starts in the spinal cord and specific brain areas in children, progressing to more widespread white and grey matter injury in adults, according to a new imaging study. The findings could lead to biomarkers for future studies and indicate that…

Pharmacological screening in a fly cardiac model of Friedreich’s ataxia (FA) identified 11 potentially protective compounds. The two most promising are the anti-inflammatory Azulfidine (sulfasalazine)  and the antidepressant Luvox (fluvoxamine), according to the researchers. The study “Identification of cardioprotective drugs by medium-scale in vivo pharmacological screening on a Drosophila cardiac model…

A new case report describes a 7-year-old boy with Friedreich’s ataxia (FA) who has a particularly early age of disease onset and an extremely rare type of mutation in the FXN gene, which led to unsteady gait, tremor, and spine curvature, among other manifestations. The study, “…

A walkway system called GAITRite is a reliable and feasible method to assess gait in young patients with Friedreich’s ataxia (FA), according to a new study. FA patients showed slower speed and increased stride time, among other changes. The study, titled, “Test-retest reliability of an…

Specific antioxidant compounds and derivatives were able to boost levels of the protein frataxin in cells from Friedreich’s ataxia (FA) patients, according to researchers from Arizona State University in Tempe. Their study, “Phenothiazine antioxidants increase mitochondrial biogenesis and frataxin levels in Friedreich’s ataxia cells,” appeared in the journal …

Synthetic molecules targeting the hallmark gene mutation in Friedreich’s ataxia (FA) were able to restore frataxin protein levels to normal in cells taken from patients, a study has found. FA is caused by a mutation in the FXN gene, resulting in reduced levels of frataxin, a protein…

Patients with Friedreich’s ataxia (FA) have smaller spinal cords and evidence of atrophy in specific areas of the brain — differences that, in their degree, work to help predict clinical decline, a German study reports. The study, “Structural characteristics of the central nervous system in Friedreich ataxia:…

Novoheart, in partnership with Pfizer, has created new models of cardiac dysfunction in Friedreich’s ataxia (FA) using human stem cells as the basis, the company announced. These models are part of the company’s MyHeart platform, an approach that aims to capture the major clinical symptoms of FA. “We…

A gene therapy approach to deliver frataxin, the protein that’s deficient in Friedreich’s ataxia (FA) patients, was able to reverse disease-related changes in a new mouse model of the disease, a French study reports. The study, “Rapid and Complete Reversal of Sensory Ataxia by Gene Therapy…

Breath testing holds potential as an accurate, simple, and noninvasive diagnostic tool for Friedreich’s ataxia (FA) and other neurodegenerative diseases, a review suggests. The study, “Emergence of breath testing as a new non-invasive diagnostic modality for neurodegenerative diseases,” appeared in the journal Brain Research. Neurodegenerative diseases typically progress…

The clinical management of two siblings with Friedreich’s ataxia (FA) involved multiple approaches, including physical and occupational therapy, medications, orthopedic devices, and nutritional supplements, according to a report from clinicians in Greece. Both siblings have musculoskeletal deformities and are wheelchair-bound. The study, “Clinical management of Friedreich’s Ataxia: a report…

Researchers have found that patients with Friedreich’s ataxia (FA) show progressive deterioration of auditory neural responses to ongoing acoustic stimulation. The study titled “Rapid exhaustion of auditory neural conduction in a prototypical mitochondrial disease, Friedreich ataxia,” was published in the journal Clinical Neurophysiology. Patients with auditory neuropathy…

Researchers found that patients with Friedreich’s ataxia (FA) show a gradual reduction in low-contrast visual acuity over time. This decline is more pronounced in those with higher numbers of GAA repeats, a hallmark in FA, and could be a biomarker for future studies. The study, “Longitudinal analysis of low-contrast…

Researchers report that genetic tests for Friedreich’s ataxia (FA) are complex and may require additional screening in cases of typical clinical presentation. The study, “Pitfalls in molecular diagnosis of Friedreich ataxia,” was published in the European Journal of Medical Genetics. Friedreich’s ataxia is caused by mutations in the…

Bone marrow transplants led to nerve cell restoration in a mouse model of Friedreich’s ataxia (FA), a study showed. Benefits included improvements in movement, less nervous system damage, and the formation of new nerve cells. The study, “Bone marrow transplantation stimulates neural repair in Friedreich’s ataxia mice,” appeared…

Researchers at UNC School of Medicine described crucial structural features that enable gene therapy vectors to reach the brain. The discovery is key for neurological diseases with ongoing gene therapy trials, such as Friedreich’s ataxia (FA). The study, “Mapping the Structural Determinants Required for AAVrh.10 Transport across the…

Serum uric acid (UA) levels are increased in Friedreich’s ataxia patients and may be a disease biomarker as well as a new therapeutic target, Italian researchers suggests. Their study, “Serum uric acid in Friedreich Ataxia,” appeared in the journal Clinical Biochemistry. Friedreich’s ataxia (FA) is a rare…

Researchers are developing a new analytical method, using patients’ platelets, that enables rigorous quantification of frataxin, the protein lacking in patients with Friedreich’s ataxia (FA). Findings of the study ”Liquid Chromatography-High Resolution Mass Spectrometry Analysis of Platelet Frataxin as a Protein Biomarker for the Rare Disease Friedreich’s Ataxia,” were…

The U.S. Food and Drug Administration (FDA) has granted orphan drug status to Jotrol, a potential new therapy for Friedreich’s ataxia (FA), says the medication’s developer, Jupiter Orphan Therapeutics. The FDA decision “positions our Jotrol product as a potential treatment for FA … patients around the world,” Jupiter CEO…

Chondrial Therapeutics‘ CTI-1601, an investigative therapy for Friedreich’s ataxia (FA), has been granted orphan drug status by the U.S. Food and Drug Administration (FDA). “We are very pleased to receive orphan drug designation for CTI-1601. Our team is working to complete all Investigational New Drug (IND) enabling studies so that…

A Turkish study has classified the genetic and observable characteristics of Friedreich’s ataxia (FA) and spinocerebellar ataxia (SCA) in patients diagnosed with hereditary cerebellar ataxia. The study, “Determination of Genotypic and Phenotypic Characteristics of Friedreich’s Ataxia and Autosomal Dominant Spinocerebellar Ataxia Types 1, 2, 3, and 6”, appeared in the…